NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: Nephronophthisis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766524637
rs766524637
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C0687120
Disease:
Nephronophthisis 		GT 0.700 CausalMutation CLINVAR Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy. 16762963 2006